A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18253071



Internal ID20820111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39475763..39791530hg38UCSC Ensembl
chr1:39941435..40257202hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38315768
hg19315768
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6548849
Supporting Variants
Samples
Known GenesBMP8A, BMP8B, HEYL, HPCAL4, MACF1, NT5C1A, OXCT2, PABPC4, PPIE, PPIEL, SNORA55
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18253071
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00044


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